Associated Papers
Pediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.
Yang J et al.
Journal of Clinical Immunology, 2026
Inborn errors of regulatory T-cell differentiation and function.
Oktelik FB et al.
The Journal of Allergy and Clinical Immunology, 2025
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Aykut A et al.
Immunologic Research, 2024
FOXP3 deficiency, from the mechanisms of the disease to curative strategies.
Borna S et al.
Immunological Reviews, 2024
IPEX syndrome from diagnosis to cure, learning along the way.
Bacchetta R et al.
The Journal of Allergy and Clinical Immunology, 2024
The splicing isoform Foxp3Δ2 differentially regulates tTreg and pTreg homeostasis.
Gu Q et al.
Cell Reports, 2023
Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction.
Leon J et al.
Cell Reports, 2023
A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
Hou AN et al.
Journal of Clinical Immunology, 2023
Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo.
Mendonça LO et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S et al.
Indian Journal of Pediatrics, 2021
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Manifesting as Lymphocytic Interstitial Pneumonia and Treatment-Resistant Bullous Pemphigoid.
Andersen SM et al.
Pediatric Allergy, Immunology, and Pulmonology, 2021
Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.
Zemmour D et al.
Nature Immunology, 2021
A Structure-Guided Delineation of FOXP3 Regulation Mechanism in IPEX.
Ma T et al.
Advances in Experimental Medicine and Biology, 2021
FOXP3 and Tip60 Structural Interactions Relevant to IPEX Development Lead to Potential Therapeutics to Increase FOXP3 Dependent Suppressor T Cell Functions.
Grover P et al.
Frontiers in Pediatrics, 2021
Atypical Presentations of IPEX: Expect the Unexpected.
Consonni F et al.
Frontiers in Pediatrics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
CRISPR-based gene editing enables FOXP3 gene repair in IPEX patient cells.
Goodwin M et al.
Science Advances, 2020
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Huang Q et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020
IPEX as a Consequence of Alternatively Spliced FOXP3.
Mailer RK
Frontiers in Pediatrics, 2020
Regulatory T Cells: the Many Faces of Foxp3.
Georgiev P et al.
Journal of Clinical Immunology, 2019
Functional reprogramming of regulatory T cells in the absence of Foxp3.
Charbonnier LM et al.
Nature Immunology, 2019
A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells.
Van Gool F et al.
Immunity, 2019
Disruption of FOXP3-EZH2 Interaction Represents a Pathobiological Mechanism in Intestinal Inflammation.
Bamidele AO et al.
Cellular and Molecular Gastroenterology and Hepatology, 2019
IPEX syndrome: an easily-missed diagnosis of a life threatening condition.
Alassaf A et al.
The Turkish Journal of Pediatrics, 2019
[Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in two cases].
Zhu Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.
Bacchetta R et al.
Annals of the New York Academy of Sciences, 2018
Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation.
Griswold C et al.
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine, 2018
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
Barzaghi F et al.
The Journal of Allergy and Clinical Immunology, 2018
FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes.
Kwon HK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
Gambineri E et al.
Frontiers in Immunology, 2018
Analyses of a Mutant Foxp3 Allele Reveal BATF as a Critical Transcription Factor in the Differentiation and Accumulation of Tissue Regulatory T Cells.
Hayatsu N et al.
Immunity, 2017
Suppression by human FOXP3+ regulatory T cells requires FOXP3-TIP60 interactions.
Bin Dhuban K et al.
Science Immunology, 2017
Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops--Expanding the phenotype of IPEX syndrome.
Reichert SL et al.
American Journal of Medical Genetics. Part A, 2016
The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Bin Dhuban K et al.
Current Opinion in Allergy and Clinical Immunology, 2015
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015
A Single Amino Acid in the Hinge Loop Region of the FOXP Forkhead Domain is Significant for Dimerisation.
Perumal K et al.
The Protein Journal, 2015
Fetal-onset IPEX: report of two families and review of literature.
Xavier-da-Silva MM et al.
Clinical Immunology (orlando, Fla.), 2015
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.
Charbonnier LM et al.
The Journal of Allergy and Clinical Immunology, 2015
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.
Zama D et al.
Italian Journal of Pediatrics, 2014
Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.
Okou DT et al.
Journal of Pediatric Gastroenterology and Nutrition, 2014